Periodic fever, aphthous stomatitis, pharyngitis and adenitis

Title

Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) is a periodic disease, which is a heterogeneous group of disorders characterized by short episodes of illness that regularly recur for several years alternated with healthy periods.[1] PFAPA is characterized by high fevers lasting three to six days and recurring every 21 to 28 days, accompanied by some or all of the signs noted in its name, namely mouth sores (aphthous stomatitis), sore throat (pharyngitis), and enlarged lymph nodes (cervical adenitis). The syndrome usually occurs in children younger than five years; although it has been reported in children up to 13 years.[2] The syndrome is sporadic and non-hereditary.[3] The course of PFAPA can be persistent for years before spontaneous, full resolution.[4]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have
all the symptoms listed. This information comes from a database called the Human Phenotype Ontology
(HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO
is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

The underlying cause of PFAPA is not yet known. While it appears to involve inflammatory processes, it is not clear why episodes develop. No gene or infection has been found to be responsible for causing PFAPA and it is not contagious.[5]

There are no laboratory tests or imaging procedures specific to the diagnosis of PFAPA.[6] This condition is clinically diagnosed in individuals who have a history of 3 or more episodes of fevers that last up to 5 days and recur at regular intervals without other evidence of acute illness. Pharyngitis (sore throat) plus adenopathy (swollen lymph nodes) or aphthous ulcers (canker sores) are also noted.[7][8] Blood tests like white blood cell count, C-reactive protein, and erythrocyte sedimentation rate (ESR) are often elevated during an acute attack (but normal between attacks).[6][7][8] It is important to rule out other conditions that may present with similar symptoms (for example, strep throat). The dramatic response to treatment can help to confirm the diagnosis.[6]

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The Merck Maual provides information on periodic fever syndromes in general. The Merck Manuals are a series of healthcare books for medical professionals and consumers.

TheDoctorsDoctor.com web site provides additional information on PFAPA syndrome. Click on the link above to view this information page.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.

Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

PubMed is a searchable database of medical literature and lists journal articles that discuss Periodic fever, aphthous stomatitis, pharyngitis and adenitis. Click on the link to view a sample search on this topic.

NCATS Co-Sponsored Conferences

Description: The goals of this meeting include the exchange of clinical and scientific information regarding the autoinflammatory diseases. This is likely to result in improvements in the diagnosis and treatment of these diseases. Past Congresses have resulted in new scientific collaborations, development of registries for patients with specific autoinflammatory disorders, and the initiation of multicenter clinical trials.

Contact:
Daniel Kastner, M.D., Ph.D., 301-496-8364kastnerd@nih.gov

Co-funding Institute(s):
National Human Genome Research Institute, Office of Rare Diseases Research

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